ID   ND50076
AC   CVCL_SA22
DR   NHCDR; ND50076
DR   Wikidata; Q54930298
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (NHCDR=ND50076).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168756; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_275872; Frontotemporal dementia with motor neuron disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A9SR ! F09229
SX   Male
AG   47Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 10-04-25; Version: 12
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